KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizures.

IF 3.9 4区 医学 Q2 NEUROSCIENCES ASN NEURO Pub Date : 2022-01-01 DOI:10.1177/17590914221093257
Sanja Dimitrijevic, Biljana Jekic, Suzana Cvjeticanin, Aleksandra Tucovic, Tamara Filipovic, Ivana Novaković, Bojana Ivić, Dimitrije Nikolic
{"title":"KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizures.","authors":"Sanja Dimitrijevic,&nbsp;Biljana Jekic,&nbsp;Suzana Cvjeticanin,&nbsp;Aleksandra Tucovic,&nbsp;Tamara Filipovic,&nbsp;Ivana Novaković,&nbsp;Bojana Ivić,&nbsp;Dimitrije Nikolic","doi":"10.1177/17590914221093257","DOIUrl":null,"url":null,"abstract":"<p><p><b>Introduction:</b> Febrile seizures (FS) are the most common neurological disease in childhood. The etiology of FS is the subject of numerous studies including studies regarding genetic predisposition. <b>Aim:</b> The aim of the study was to analyze the association of <i>TRPV1</i> rs222747 and <i>KCC2</i> rs2297201 gene polymorphisms with the occurrence of FS. <b>Materials and Methods:</b> The study included 112 patients diagnosed with FS classified as simple febrile seizures (SFS) or complex febrile seizures (CFS). We analyzed selected polymorphisms of <i>KCC2</i> and <i>TRPV1</i> genes using the Real-time PCR method. <b>Results:</b> The CT and TT genotypes of the rs2297201 polymorphism of the <i>KCC2</i> gene are significantly more common in the group of children with FS than the control group (<i>p</i> = .002) as well as the allele T of this polymorphism (<i>p</i> = .045). Additionally, genotypes CT and TT of the rs2297201 polymorphism of the <i>KCC2</i> gene were more frequent in the group of children with CFS compared to the control group (<i>p</i> < .001). Different genotypes and alleles of the rs222747 <i>TRPV1</i> gene polymorphism were not associated with the occurrence of febrile seizures or epilepsy, nor were associated with the occurrence of a particular type of febrile seizure (<i>p</i> = .252). <b>Conclusion:</b> These results indicate that the CT and TT genotypes, as well as the T allele of rs2297201 polymorphism of the <i>KCC2</i> gene, could be a predisposing factor for the FS, as well as the occurrence of CFS.</p>","PeriodicalId":8616,"journal":{"name":"ASN NEURO","volume":"14 ","pages":"17590914221093257"},"PeriodicalIF":3.9000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5c/ce/10.1177_17590914221093257.PMC9016559.pdf","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"ASN NEURO","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/17590914221093257","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
引用次数: 2

Abstract

Introduction: Febrile seizures (FS) are the most common neurological disease in childhood. The etiology of FS is the subject of numerous studies including studies regarding genetic predisposition. Aim: The aim of the study was to analyze the association of TRPV1 rs222747 and KCC2 rs2297201 gene polymorphisms with the occurrence of FS. Materials and Methods: The study included 112 patients diagnosed with FS classified as simple febrile seizures (SFS) or complex febrile seizures (CFS). We analyzed selected polymorphisms of KCC2 and TRPV1 genes using the Real-time PCR method. Results: The CT and TT genotypes of the rs2297201 polymorphism of the KCC2 gene are significantly more common in the group of children with FS than the control group (p = .002) as well as the allele T of this polymorphism (p = .045). Additionally, genotypes CT and TT of the rs2297201 polymorphism of the KCC2 gene were more frequent in the group of children with CFS compared to the control group (p < .001). Different genotypes and alleles of the rs222747 TRPV1 gene polymorphism were not associated with the occurrence of febrile seizures or epilepsy, nor were associated with the occurrence of a particular type of febrile seizure (p = .252). Conclusion: These results indicate that the CT and TT genotypes, as well as the T allele of rs2297201 polymorphism of the KCC2 gene, could be a predisposing factor for the FS, as well as the occurrence of CFS.

Abstract Image

Abstract Image

Abstract Image

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
KCC2 rs2297201基因多态性可能是热性惊厥的预测性遗传标记
热性惊厥(FS)是儿童最常见的神经系统疾病。FS的病因学是许多研究的主题,包括关于遗传易感性的研究。目的:本研究旨在分析TRPV1 rs222747和KCC2 rs2297201基因多态性与FS发生的关系。材料与方法:研究纳入112例诊断为FS的患者,分为单纯热性惊厥(SFS)和复杂热性惊厥(CFS)。我们用Real-time PCR方法分析了KCC2和TRPV1基因的多态性。结果:KCC2基因rs2297201多态性的CT和TT基因型在FS组显著高于对照组(p = 0.002),该多态性的等位基因T显著高于对照组(p = 0.045)。此外,与对照组相比,KCC2基因rs2297201多态性的基因型CT和TT在CFS儿童组中更常见(p TRPV1基因多态性与热性惊厥或癫痫的发生无关,也与特定类型的热性惊厥的发生无关(p = .252)。结论:CT和TT基因型以及KCC2基因rs2297201多态性的T等位基因可能是FS的易感因素,也是CFS发生的易感因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
ASN NEURO
ASN NEURO NEUROSCIENCES-
CiteScore
7.70
自引率
4.30%
发文量
35
审稿时长
>12 weeks
期刊介绍: ASN NEURO is an open access, peer-reviewed journal uniquely positioned to provide investigators with the most recent advances across the breadth of the cellular and molecular neurosciences. The official journal of the American Society for Neurochemistry, ASN NEURO is dedicated to the promotion, support, and facilitation of communication among cellular and molecular neuroscientists of all specializations.
期刊最新文献
Cellular Mechanisms of Cognitive Enhancement: The In Vivo Modulation of the Firing Activity and the Responsiveness of Rat Hippocampal Neurons by Memantine and Alpha7 Nicotinic Acetylcholine Receptor Ligands. Diverse Responses of Oligodendrocytes to Different FGF-Family Members: Uncoupling Structure-Function Relationship Within FGF Subfamilies. Pannexin1 Mediates Early-Life Seizure-Induced Social Behavior Deficits. Reduced Expression of Oligodendrocyte Linage-Enriched Transcripts During the Endoplasmic Reticulum Stress/Integrated Stress Response. Steroidogenic Factor-1 Regulation of Dorsomedial Ventromedial Hypothalamic Nucleus Ghrh Neuron Transmitter Marker and Estrogen Receptor Gene Expression in Male Rat.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1